Sequence Detail

ID/Version

P17439 Q78NR7 (UniProt | EBI)

Last sequence update: 1990-08-01
Last annotation update: 2024-03-27

Sequence description from provider

RecName: Full=Lysosomal acid glucosylceramidase {ECO:0000305}; Short=Lysosomal acid GCase {ECO:0000303|PubMed:24211208}; EC=3.2.1.45 {ECO:0000269|PubMed:1594045, ECO:0000269|PubMed:24211208};AltName: Full=Acid beta-glucosidase;AltName: Ful

Provider

SWISS-PROT

Sequence

Polypeptide 515 aa

Source

Organism mouse

See UniProt | EBI for source

Annotated genes and markers

Follow the symbol links to get more information on the GO terms, expression assays, orthologs, phenotypic alleles, and other information for the genes or markers below.

Type	Symbol	Name	GO Terms	Expression Assays	Orthologs	Phenotypic Alleles
Gene	Gba1	glucosylceramidase beta 1	108	104	3	36

Sequence references in MGI

J:862 Carstea ED, et al., Molecular and functional characterization of the murine glucocerebrosidase gene. Biochem Biophys Res Commun. 1992 May 15;184(3):1477-83
J:1100 Tybulewicz VL, et al., Animal model of Gaucher's disease from targeted disruption of the mouse glucocerebrosidase gene. Nature. 1992 Jun 4;357(6377):407-10
J:9864 O'Neill RR, et al., Comparison of the chromosomal localization of murine and human glucocerebrosidase genes and of the deduced amino acid sequences. Proc Natl Acad Sci U S A. 1989 Jul;86(13):5049-53
J:99680 The FANTOM Consortium and RIKEN Genome Exploration Research Group and Genome Science Group (Genome Network Project Core Group), The Transcriptional Landscape of the Mammalian Genome. Science. 2005;309(5740):1559-1563
J:185511 Liu J, et al., Gaucher disease gene GBA functions in immune regulation. Proc Natl Acad Sci U S A. 2012 Jun 19;109(25):10018-23
J:237861 Magalhaes J, et al., Autophagic lysosome reformation dysfunction in glucocerebrosidase deficient cells: relevance to Parkinson disease. Hum Mol Genet. 2016 Aug 15;25(16):3432-3445
J:268017 Akiyama H, et al., Cholesterol glucosylation is catalyzed by transglucosylation reaction of beta-glucosidase 1. Biochem Biophys Res Commun. 2013 Nov 29;441(4):838-43
J:269546 Jian J, et al., Progranulin Recruits HSP70 to beta-Glucocerebrosidase and Is Therapeutic Against Gaucher Disease. EBioMedicine. 2016 Nov;13:212-224
J:292518 Huttlin EL, et al., A tissue-specific atlas of mouse protein phosphorylation and expression. Cell. 2010 Dec 23;143(7):1174-89